IEMbase 0229: SLC25A20-related Carnitine acylcarnitine translocase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 229 |
| Nosology | 4.1.04.01 |
| Gene | SLC25A20 |
| External IDs | OMIM:212138; ORPHA:159 |
| Generated mapping | MAPPED; Carnitine-Acylcarnitine_Translocase_Deficiency.yaml |
| Candidate DisMech targets | Carnitine-Acylcarnitine_Translocase_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as SLC25A20-related carnitine acylcarnitine translocase deficiency. The record is autosomal recessive and treatability is marked unknown.
The biochemical rows include multiple C16-C18 long-chain acylcarnitine species, C14:0, free carnitine, creatine kinase, transaminases, hypoketotic hypoglycemia context, dicarboxylic organic acids, glucose, and lactate. Clinical rows include sudden death. Characteristic rows include severe cardiac arrhythmias, cardiomyopathy, coma, muscular-axial hypotonia, high lethality of severe phenotypes, lethargy, liver dysfunction, and skeletal myopathy. Treatments listed by IEMbase are triheptanoin/Dojolvi, glucose infusion, and MCT-enriched diet.
DisMech phenotype coverage
Carnitine-Acylcarnitine_Translocase_Deficiency.yaml is the correct target.
The local entry covers biallelic SLC25A20 disease, the mitochondrial inner
membrane carnitine-acylcarnitine exchanger, long-chain acylcarnitine trapping
with secondary free-carnitine depletion, abnormal C16/C18 acylcarnitines and
ratio indices, neonatal and infantile presentations, hypoketotic hypoglycemia,
hyperammonemia, arrhythmia, cardiomyopathy, hepatic dysfunction, high mortality,
newborn-screening limits, triheptanoin, MCT oil, carnitine supplementation,
and acute high-rate dextrose management.
Concordance and completeness
Judgement: correct mapped target with high concordance.
IEMbase and DisMech agree on SLC25A20/CACT identity, carnitine-shuttle mechanism, long-chain acylcarnitine abnormalities, free-carnitine involvement, cardiac arrhythmia, cardiomyopathy, liver dysfunction, myopathy, lethargy/coma, severe early lethality, glucose support, MCT therapy, and triheptanoin. DisMech is richer for transport mechanism, diagnostic ratios, treatment rationale, and newborn-screening limitations.
Curation actions
- Keep this record mapped to
Carnitine-Acylcarnitine_Translocase_Deficiency.yaml. - No mapping correction is needed.
- Use IEMbase as additional confirmation for sudden-death wording and granular acylcarnitine/organic-acid review rows.